Gene Gene information from NCBI Gene database.
Entrez ID 3998
Gene name Lectin, mannose binding 1
Gene symbol LMAN1
Synonyms (NCBI Gene)
ERGIC-53ERGIC53F5F8DFMFD1MCFD1MR60gp58
Chromosome 18
Chromosome location 18q21.32
Summary The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The prot
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs121909253 A>G Pathogenic Initiator codon variant, missense variant
rs183873209 T>A,C Likely-pathogenic Stop gained, coding sequence variant, missense variant
rs869312030 ->C Pathogenic Coding sequence variant, frameshift variant
rs869312031 A>G Pathogenic Splice donor variant
rs869312032 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
696
miRTarBase ID miRNA Experiments Reference
MIRT024823 hsa-miR-215-5p Microarray 19074876
MIRT026376 hsa-miR-192-5p Microarray 19074876
MIRT040889 hsa-miR-18a-3p CLASH 23622248
MIRT664990 hsa-miR-495-3p HITS-CLIP 23824327
MIRT664988 hsa-miR-5688 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS 7876089
GO:0001701 Process In utero embryonic development IEA
GO:0005515 Function Protein binding IPI 9774442, 16304051, 17805346, 17971482, 18287528, 19787799, 20138881, 20142513, 22337587, 24806965, 31142615, 33961781, 34779586, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601567 6631 ENSG00000074695
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49257
Protein name Protein ERGIC-53 (ER-Golgi intermediate compartment 53 kDa protein) (Gp58) (Intracellular mannose-specific lectin MR60) (Lectin mannose-binding 1)
Protein function Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific
PDB 3A4U , 3LCP , 3WHT , 3WHU , 3WNX , 4GKX , 4GKY , 4YGB , 4YGC , 4YGD , 4YGE , 8JP4 , 8JP5 , 8JP6 , 8JP7 , 8JP8 , 8JP9 , 8JPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03388 Lectin_leg-like 44 269 Legume-like lectin family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:13130098}.
Sequence
MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHRRFEYKYSFKGPHLVQS
DGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAAFENWEVEVTFRVTGRGRIGA
DGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKKNNPAIVIIGNNGQIHYDHQN
DGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINNGFTPDKNDYEFCAKVENMIIPA
QGHFGISAATGGLADDHDVLSFLTFQLTE
PGKEPPTPDKEISEKEKEKYQEEFEHFQQEL
DKKKEEFQKGHPDLQGQPAEEIFESVGDRELRQVFEGQNRIHLEIKQLNRQLDMILDEQR
RYVSSLTEEISKRGAGMPGQHGQITQQELDTVVKTQHEILRQVNEMKNSMSETVRLVSGM
QHPGSAGGVYETTQHFIDIKEHLHIVKRDIDNLVQRNMPSNEKPKCPELPPFPSCLSTVH
FIIFVVVQTVLFIGYIMYRSQQEAAAKKFF
Sequence length 510
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   COPII-mediated vesicle transport
Cargo concentration in the ER
Transport to the Golgi and subsequent modification
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Factor V and factor VIII, combined deficiency of, type 1 Pathogenic; Likely pathogenic rs1006524651, rs869312030, rs869312031, rs869312032, rs869312033, rs121909253, rs183873209 RCV002465069
RCV000008528
RCV000008529
RCV000008530
RCV000008531
RCV000008532
RCV000852241
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LMAN1-related disorder Pathogenic rs869312033 RCV003398471
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED DEFICIENCY OF FACTOR V AND FACTOR VIII GenCC, Orphanet
GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Blood Coagulation Disorders Associate 10090934
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Inherited Associate 10090934
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Associate 27765924
★☆☆☆☆
Found in Text Mining only
Factor V Deficiency Associate 20138881
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Factors VIII IX And XI Combined Deficiency of Associate 10551804, 17971482, 9546392
★☆☆☆☆
Found in Text Mining only
Familial Multiple Coagulation Factor Deficiency I Associate 10090934, 10090935, 14629470, 15876275, 16044454, 16304051, 18056485, 19787799, 20138881, 20142513, 20460353, 32170195, 36116005, 9546392
★☆☆☆☆
Found in Text Mining only
Familial Multiple Coagulation Factor Deficiency I Stimulate 20460353
★☆☆☆☆
Found in Text Mining only
Hemophilia A Associate 16044454, 18056485, 19787799, 20138881
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hemorrhage Associate 10551804, 14629470
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Associate 23557496
★☆☆☆☆
Found in Text Mining only